Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Por Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste, Dobyns, William B, Pilz, Daniela T
Publicado no Eur J Hum Genet (2015)

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Por Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jarlbrzkowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.
Publicado em 2013

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Por Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jalbrzikowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.
Publicado em 2013